Glycogen storage disease type IIIa (GSDIIIa)is a hereditary disease that can be tested with a DNA test. The glycogen storage diseases (GSD) are a group of autosomal recessive disorders of glycogen metabolism that occur in all species and result in glycogen accumulation in tissue and disturbed glucose homeostasis. Clinical signs of disease vary, depending on severity of the enzyme defect, subcellular compartmentalization of the enzyme, and tissues in which the enzyme is normally expressed. The hereditary disease is characterized by a deficiency in glycogen debranching enzymes. Affected dogs show less symptoms in early life, but older animals suffer from lethargy and episodic hypoglycemia with collapse.
Inheritance: autosomal reccesive - read more
Mutation: AGL gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.